Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
  • Users Online: 1578
  • Home
  • Print this page
  • Email this page
Year : 2016  |  Volume : 64  |  Issue : 7  |  Page : 508-512

Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract

Department of Ophthalmology; Shanghai Key Laboratory of Visual Impairment and Restoration; Key Laboratory of Myopia, Ministry of Health, Eye and ENT Hospital of Fudan University, Shanghai, China

Correspondence Address:
Xinghuai Sun
Eye and ENT Hospital of Fudan University, 83 Fenyang Road, Shanghai 200031
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.190139

Rights and Permissions

Context: Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract. Aims: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract. Subjects and Methods: After obtained informed consent, detailed ophthalmic examinations were carried out; genomic DNAs were obtained from seven family members in a three-generation Chinese family with three affected. All exons of candidate genes were amplified by polymerase chain reaction and were sequenced performed by bidirectional sequencing. Results: By sequencing the encoding regions of the candidate genes, a missense mutation (c. 176C>T) was detected in gap junction protein alpha 3 genes (GJA3), which resulted in the substitution of highly conserved proline by leucine at codon 59 (p.P59L). The mutation co-segregated with all patients and was absent in 100 normal Chinese controls. Conclusions: The study identified a missense mutation (c. 176C>T) in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. It gave further evidence of phenotype heterogeneity for P59L mutation in GJA3 associated with congenital cataract.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded123    
    Comments [Add]    

Recommend this journal